Research & Literature

Vigabatrin as First-Line Treatment for Infantile Spasms Not Related to Tuberous Sclerosis Complex.

Jones K, Go C, Boyd J, et al.

Pediatric neurology 2015; (53(2)):141-5.

Predictive factors for relapse of epileptic spasms after adrenocorticotropic hormone therapy in West syndrome.

Hayashi Y, Yoshinaga H, Akiyama T, et al.

Brain & development 2016; (38(1)):32-9.

Epileptic spasms in clusters with focal EEG paroxysms: A study of 12 patients.

Caraballo RH, Reyes G, Falsaperla R, et al.

Seizure 2016; (35()):88-92.

Management of infantile spasms.

Nelson GR

Translational pediatrics 2015; (4(4)):260-70 doi:10.3978/j.issn.2224-4336.2015.09.01.

The early electroclinical manifestations of infantile spasms: A video EEG study.

Iype M, Kunju PA, Saradakutty G, et al.

Annals of Indian Academy of Neurology 2016; (19(1)):52-7 doi:10.4103/0972-2327.168627.

GATOR1 complex: the common genetic actor in focal epilepsies.

Baldassari S, Licchetta L, Tinuper P, et al.

Journal of medical genetics 2016; (53(8)):503-10 doi:10.1136/jmedgenet-2016-103883.

Safety and effectiveness of hormonal treatment versus hormonal treatment with vigabatrin for infantile spasms (ICISS): a randomised, multicentre, open-label trial.

O'Callaghan FJ, Edwards SW, Alber FD, et al.

The Lancet. Neurology 2017; (16(1)):33-42 doi:10.1016/S1474-4422(16)30294-0.

Efficacy of Treatments for Infantile Spasms: A Systematic Review.

Song JM, Hahn J, Kim SH, Chang MJ

Clinical neuropharmacology 2017; (40(2)):63-84 doi:10.1097/WNF.0000000000000200.

Tuberous Sclerosis Complex: A Review.

Randle SC

Pediatric annals 2017; (46(4)):e166-e171 doi:10.3928/19382359-20170320-01.

The impact of hypsarrhythmia on infantile spasms treatment response: Observational cohort study from the National Infantile Spasms Consortium.

Demarest ST, Shellhaas RA, Gaillard WD, et al.

Epilepsia 2017; (58(12)):2098-2103 doi:10.1111/epi.13937.

Recognition of Infantile Spasms Is Often Delayed: The ASSIST Study.

Hussain SA, Lay J, Cheng E, et al.

The Journal of pediatrics 2017; (190()):215-221.e1 doi:10.1016/j.jpeds.2017.08.009.

Quality improvement in neurology: Child neurology quality measure set: Executive summary.

Patel AD, Berg AT, Billinghurst L, et al.

Neurology 2018; (90(2)):67-73 doi:10.1212/WNL.0000000000004806.

Utility of additional dedicated high-resolution 3T MRI in children with medically refractory focal epilepsy.

Ahmed R, Rubinger L, Go C, et al.

Epilepsy research 2018; (143()):113-119 doi:10.1016/j.eplepsyres.2018.01.002.

Knowledge, Attitude and Practice (KAP) Study of Pediatricians on Infantile Spasms.

Vaddi VK, Sahu JK, Dhawan SR, et al.

Indian journal of pediatrics 2018; (85(10)):836-840 doi:10.1007/s12098-018-2630-3.

Bottom-of-sulcus focal cortical dysplasia presenting as epilepsia partialis continua multimodality characterization including 7T MRI.

Kelley SA, Robinson S, Crone NE, Soares BP

Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery 2018; (34(6)):1267-1269 doi:10.1007/s00381-018-3749-2.

Sandifer syndrome.

Moore DM, Rizzolo D

JAAPA : official journal of the American Academy of Physician Assistants 2018; (31(4)):18-22 doi:10.1097/01.JAA.0000531044.72598.26.

Hypsarrhythmia in epileptic spasms: Synchrony in chaos.

Nenadovic V, Whitney R, Boulet J, Cortez MA

Seizure 2018; (58()):55-61 doi:10.1016/j.seizure.2018.03.026.

Novel West syndrome candidate genes in a Chinese cohort.

Peng J, Wang Y, He F, et al.

CNS neuroscience & therapeutics 2018; (24(12)):1196-1206 doi:10.1111/cns.12860.

Infantile Spasms-Have We Made Progress?

Kelley SA, Knupp KG

Current neurology and neuroscience reports 2018; (18(5)):27 doi:10.1007/s11910-018-0832-8.

Central nervous system manifestations of tuberous sclerosis complex.

Lu DS, Karas PJ, Krueger DA, Weiner HL

American journal of medical genetics. Part C, Seminars in medical genetics 2018; (178(3)):291-298 doi:10.1002/ajmg.c.31647.

A novel C-terminal truncated mutation in hCDKL5 protein causing a severe West syndrome: Comparison with previous truncated mutations and genotype/phenotype correlation.

Jdila MB, Triki C, Rhouma BB, et al.

International journal of developmental neuroscience : the official journal of the International Society for Developmental Neuroscience 2019; (72()):22-30 doi:10.1016/j.ijdevneu.2018.09.006.

Latitudinal differences on the global epidemiology of infantile spasms: systematic review and meta-analysis.

Jia JL, Chen S, Sivarajah V, et al.

Orphanet journal of rare diseases 2018; (13(1)):216 doi:10.1186/s13023-018-0952-x.

Treating Infantile Spasms with High-Dose Oral Corticosteroids: A Retrospective Review of 87 Children.

Gonzalez-Giraldo E, Stafstrom CE, Stanfield AC, Kossoff EH

Pediatric neurology 2018; (87()):30-35 doi:10.1016/j.pediatrneurol.2018.06.011.

Treatment of infantile spasms.

Hussain SA

Epilepsia open 2018; (3(Suppl Suppl 2)):143-154 doi:10.1002/epi4.12264.

Phenotypic manifestations between male and female children with CDKL5 mutations.

Liang JS, Huang H, Wang JS, Lu JF

Brain & development 2019; (41(9)):783-789 doi:10.1016/j.braindev.2019.05.003.

[Effect of prednisolone and adrenocorticotropic hormone in the treatment of infantile spasms: a Meta analysis].

Luo KR, Tang J, Mu DZ

Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics 2019; (21(7)):656-662.

Prednisolone/prednisone as adrenocorticotropic hormone alternative for infantile spasms: a meta-analysis of randomized controlled trials.

Li S, Zhong X, Hong S, et al.

Developmental medicine and child neurology 2020; (62(5)):575-580 doi:10.1111/dmcn.14452.

Update on Drug Management of Refractory Epilepsy in Tuberous Sclerosis Complex.

van der Poest Clement E, Jansen FE, Braun KPJ, Peters JM

Paediatric drugs 2020; (22(1)):73-84 doi:10.1007/s40272-019-00376-0.

Post-Traumatic West Syndrome due to Abusive Head Trauma in Two Infants with Different Brain Imaging Findings.

Takeda R, Kobayashi S, Kamioka N, et al.

The Tohoku journal of experimental medicine 2020; (250(3)):167-171 doi:10.1620/tjem.250.167.

Crisis Standard of Care: Management of Infantile Spasms during COVID-19.

Grinspan ZM, Mytinger JR, Baumer FM, et al.

Annals of neurology 2020; (88(2)):215-217 doi:10.1002/ana.25792.

Rapid ictal transition of focal epilepsy to infantile spasms in neurofibromatosis type 1 captured with EEG.

Patel SH, Carson RP, Jordan LC, Pagano LM

Epilepsy & behavior reports 2020; (14()):100374 doi:10.1016/j.ebr.2020.100374.

Potential induction of epileptic spasms by nonselective voltage-gated sodium channel blockade: Interaction with etiology.

Hussain SA, Heesch J, Weng J, et al.

Epilepsy & behavior : E&B 2021; (115()):107624 doi:10.1016/j.yebeh.2020.107624.

Association of Child Neurology (AOCN) - Indian Epilepsy Society (IES) Consensus Guidelines for the Diagnosis and Management of West Syndrome.

Sharma S, Kaushik JS, Srivastava K, et al.

Indian pediatrics 2021; (58(1)):54-66.

Evolution of Infantile Spasms to Lennox-Gastaut Syndrome: What Is There to Know?

Nelson JA, Demarest S, Thomas J, et al.

Journal of child neurology 2021; (36(9)):752-759 doi:10.1177/08830738211000514.

Prescription patterns of antiseizure drugs in tuberous sclerosis complex (TSC)-associated epilepsy: a multicenter cohort study from Germany and review of the literature.

Strzelczyk A, Grau J, Bast T, et al.

Expert review of clinical pharmacology 2021; (14(6)):749-760 doi:10.1080/17512433.2021.1911643.

Evaluation of the Modified Atkins Diet for the Treatment of Epileptic Spasms Refractory to Hormonal Therapy: A Randomized Controlled Trial.

Sharma S, Goel S, Kapoor D, et al.

Journal of child neurology 2021; (36(8)):686-691 doi:10.1177/08830738211004747.

Confirming the contribution and genetic spectrum of de novo mutation in infantile spasms: Evidence from a Chinese cohort.

Liu L, Liu F, Wang Q, et al.

Molecular genetics & genomic medicine 2021; (9(6)):e1689 doi:10.1002/mgg3.1689.

A Common Seizure Mimic Masquerading as Recurrent Status Epilepticus.

Manokaran RK, Varsha R

Indian journal of pediatrics 2021; (88(7)):727 doi:10.1007/s12098-021-03798-2.

Definitions and Diagnostic Criteria for Infantile Spasms and West Syndrome - Historical Perspectives and Practical Considerations.

Mytinger JR

Seminars in pediatric neurology 2021; (38()):100893 doi:10.1016/j.spen.2021.100893.

Clinical manifestation of CDKL5 deficiency disorder and identified mutations in a cohort of Slovak patients.

Kluckova D, Kolnikova M, Medova V, et al.

Epilepsy research 2021; (176()):106699 doi:10.1016/j.eplepsyres.2021.106699.

Comparative Effectiveness of Initial Treatment for Infantile Spasms in a Contemporary US Cohort.

Grinspan ZM, Knupp KG, Patel AD, et al.

Neurology 2021; (97(12)):e1217-e1228 doi:10.1212/WNL.0000000000012511.

Confirmation of infantile spasms resolution by prolonged outpatient EEGs.

Yuskaitis CJ, Mysak K, Godlewski B, et al.

Epilepsia open 2021; (6(4)):714-719 doi:10.1002/epi4.12540.

Epilepsy and Neurodevelopmental Outcomes in a Cohort of West Syndrome Beyond Two Years of Age.

Aramanadka R, Sahu JK, Madaan P, et al.

Indian journal of pediatrics 2022; (89(8)):765-770 doi:10.1007/s12098-021-03918-y.

Infantile spasms: Knowledge, attitude, and practice of pediatricians in Turkey.

Yılmaz D, Yayıcı Köken Ö, Gürkaş E, et al.

Epilepsy & behavior : E&B 2022; (126()):108456 doi:10.1016/j.yebeh.2021.108456.

Diagnostic value of MRI in the presurgical evaluation of patients with epilepsy: influence of field strength and sequence selection: a systematic review and meta-analysis from the E-PILEPSY Consortium.

Rados M, Mouthaan B, Barsi P, et al.

Epileptic disorders : international epilepsy journal with videotape 2022; (24(2)):323-342 doi:10.1684/epd.2021.1399.

Homozygous exonic and intragenic NRXN1 deletion presenting as either West syndrome or autism spectrum disorder in two siblings.

Aksu Uzunhan T, Ayaz A

Clinical neurology and neurosurgery 2022; (214()):107141 doi:10.1016/j.clineuro.2022.107141.

Efficacy of Ketogenic Diet for Infantile Spasms in Chinese Patients With or Without Monogenic Etiology.

Wang J, Zhang J, Yang Y, et al.

Frontiers in pediatrics 2022; (10()):842666 doi:10.3389/fped.2022.842666.

Adrenal insufficiency among children treated with hormonal therapy for infantile spasms.

Doré-Brabant G, Laflamme G, Millette M, et al.

Epilepsia 2022; (63(9)):2350-2358 doi:10.1111/epi.17348.

Association of Time to Clinical Remission With Sustained Resolution in Children With New-Onset Infantile Spasms.

Yuskaitis CJ, Mytinger JR, Baumer FM, et al.

Neurology 2022; (99(22)):e2494-e2503 doi:10.1212/WNL.0000000000201232.

Diagnostic yield of a multi-strategy genetic testing procedure in a nationwide cohort of 728 patients with infantile spasms in China.

Liu LY, Lu Q, Wang QH, et al.

Seizure 2022; (103()):51-57 doi:10.1016/j.seizure.2022.10.014.

Neuroimaging in Adults and Children With Epilepsy.

Passaro EA

Continuum (Minneapolis, Minn.) 2023; (29(1)):104-155 doi:10.1212/CON.0000000000001242.

The Effect of Smartphone Video on Lead Time to Diagnosis of Infantile Spasms.

Rao CK, Nordli DR, Cousin JJ, et al.

The Journal of pediatrics 2023; (258()):113387 doi:10.1016/j.jpeds.2023.02.035.

Neurodevelopmental Outcomes of a Cohort of Children with Tuberous Sclerosis Complex with Epileptic Spasms.

Saini L, Mukherjee S, Gunasekaran PK, et al.

Neuropediatrics 2023; (54(5)):335-338 doi:10.1055/s-0043-1770937.

KNOCK, KNOCK, KNOCK-IN ON GABA'S DOOR: GABRB3 Knock-in Mutation Causes Infantile Spasms in Mice.

Stafstrom CE

Epilepsy currents 2023; (23(6)):378-380 doi:10.1177/15357597231204594.

Electroclinical Landscape of Infantile Epileptic Spasms Syndrome.

Pal P, Negi S, Baishya J, et al.

Indian journal of pediatrics 2025; (92(5)):474-484 doi:10.1007/s12098-023-05017-6.

Genetic Advancements in Infantile Epileptic Spasms Syndrome and Opportunities for Precision Medicine.

Snyder HE, Jain P, RamachandranNair R, et al.

Genes 2024; (15(3)) doi:10.3390/genes15030266.

Novel copy number variations and phenotypes of infantile epileptic spasms syndrome.

Cheng M, Bai L, Yang Y, et al.

Clinical genetics 2024; (106(2)):161-179 doi:10.1111/cge.14520.

Epileptic spasms relapse is associated with response latency but not conventional attributes of post-treatment EEG.

Deckard E, Sathe R, Tabibzadeh D, et al.

Epilepsia open 2024; (9(3)):1034-1041 doi:10.1002/epi4.12931.

Risk of autism spectrum disorder in children with infantile epileptic spasms syndrome: a retrospective study in a single center in Brazil.

Matos MB, Liberalesso PBN, Bara TDS, et al.

Jornal de pediatria 2024; (100(5)):552-556 doi:10.1016/j.jped.2024.04.006.

Characteristics of malignant brain tumor-associated epileptic spasms.

Yamada N, Kuki I, Fukuoka M, et al.

Epileptic disorders : international epilepsy journal with videotape 2024; (26(4)):514-519 doi:10.1002/epd2.20240.

The Utility of Genetic Testing in Infantile Epileptic Spasms Syndrome: A Step-Based Approach in the Next-Generation Sequencing Era.

Kanmaz S, Yılmaz S, Olculu CB, et al.

Pediatric neurology 2024; (157()):100-107 doi:10.1016/j.pediatrneurol.2024.05.018.

Epilepsy surgery for children with epileptic spasms: A systematic review and meta-analysis with focus on predictors and outcomes.

Kolosky T, Goldstein Shipper A, Sun K, et al.

Epilepsia open 2024; (9(4)):1136-1147 doi:10.1002/epi4.13007.

Evolving treatment strategies for early-life seizures in Tuberous Sclerosis Complex: A review and treatment algorithm.

Samanta D

Epilepsy & behavior : E&B 2024; (161()):110123 doi:10.1016/j.yebeh.2024.110123.

Recent advances in CYFIP2-associated neurodevelopmental disorders: From human genetics to molecular mechanisms and mouse models.

Ma R, Kim US, Chung Y, et al.

Brain & development 2025; (47(1)):104302 doi:10.1016/j.braindev.2024.104302.

Diagnostic yields of genetic testing and related benefits in infantile epileptic spasms syndrome: A systematic review and meta-analysis.

Feng X, Yang J, Chen N, et al.

Seizure 2025; (124()):18-24 doi:10.1016/j.seizure.2024.11.014.

Infantile epileptic spasms syndrome: When spasms come out of the blue.

Conti M, Matricardi S, Piscitello LM, et al.

Epilepsy & behavior : E&B 2025; (163()):110180 doi:10.1016/j.yebeh.2024.110180.

A Multicenter Retrospective Observational Cohort Study of Seizure Freedom before Lennox-Gastaut Syndrome (the "Gap"). Opportunities for Prevention.

Deering L, Nelson A, Yozawitz E, et al.

medRxiv : the preprint server for health sciences 2024; doi:10.1101/2024.12.03.24318373.

Infantile Spasms in Pediatric Down Syndrome: Potential Mechanisms Driving Therapeutic Considerations.

Stafstrom CE, Shao LR

Children (Basel, Switzerland) 2024; (11(12)) doi:10.3390/children11121513.

In vivo 9.4 Tesla MRI of a patient with drug-resistant epilepsy: Technical report.

van Lanen RHGJ, Uher D, Tse DHY, et al.

Acta neurochirurgica 2025; (167(1)):18 doi:10.1007/s00701-024-06385-4.

The genetic landscape and classification of infantile epileptic spasms syndrome requiring surgery due to suspected focal brain malformations.

Coleman M, Wang M, Snell P, et al.

Brain communications 2025; (7(1)):fcaf034 doi:10.1093/braincomms/fcaf034.

Harmonization of MRI sequences across ERN EpiCARE centers.

Adler S, D'Arco F, Mankad K, et al.

Epilepsia open 2025; (10(2)):587-592 doi:10.1002/epi4.13115.

Evaluating the effectiveness of medical therapy in infantile epileptic spasms syndrome due to surgically-remediable lesions.

Singh A, Hadjinicolaou A, Briscoe-Abath C, et al.

Epilepsia 2025; (66(5)):1433-1446 doi:10.1111/epi.18291.

HECW2 Gene Mutation: A Rare Cause of West Syndrome: A Case Report.

Meena AK, Mahesan A, Kamila G, et al.

Neurology India 2025; (73(4)):784-787 doi:10.4103/neurol-india.Neurol-India-D-23-00203.

Upward eye deviation as a precursor to epileptic spasms: A case successfully treated with early corpus callosotomy without adrenocorticotropic hormone therapy.

Iimura Y, Suzuki H, Mitsuhashi T, et al.

Epilepsy & behavior reports 2025; (32()):100818 doi:10.1016/j.ebr.2025.100818.

Rapid Electroclinical Evolution in HECW2-Related Developmental and Epileptic Encephalopathy: Report of a Likely Splicing Variant With Familial Transmission.

Melgarejo S, Reyes Valenzuela G, Juanes M, et al.

International journal of developmental neuroscience : the official journal of the International Society for Developmental Neuroscience 2025; (85(5)):e70041 doi:10.1002/jdn.70041.

Genetic Etiology of Infantile Spasms in Peruvian Children: A Multicenter Study.

Castillo-Huerta NM, Delgado-Mosqueira MG, Diaz-Kuan A, et al.

Journal of child neurology 2025; 8830738251399269 doi:10.1177/08830738251399269.

Spindle density relates to cognitive outcomes in infantile epileptic spasms syndrome with unknown etiology: A retrospective cohort study.

Daida A, Matsuura R, Hamano SI, et al.

Epilepsia 2026; (67(5)):2533-2544 doi:10.1002/epi.70130.

Analysis of treatment outcome variations in infantile epileptic spasms syndrome.

Gong X, Gan J, Wang X, et al.

Frontiers in neurology 2026; (17()):1749636 doi:10.3389/fneur.2026.1749636.